Zobrazeno 1 - 10
of 19
pro vyhledávání: '"H K, Ploos van Amstel"'
Autor:
M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy
Externí odkaz:
https://doaj.org/article/ef19cbdf0ac74c62b3854c93fa439f5e
Autor:
H K Ploos van Amstel, C.M.A. van Ravenswaaij-Arts, M M Hitzert, G Baldewsingh, S. N. van der Crabben, A. van den Wijngaard, C W R Zijlmans
Publikováno v:
Orphanet Journal of Rare Diseases, 14(1):294. BioMed Central Ltd
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 14(1):294. BioMed Central
Orphanet journal of rare diseases, 14(1):294. BMC
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 14(1):294. BioMed Central
Orphanet journal of rare diseases, 14(1):294. BMC
Background Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy, insulin
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
H. K. Ploos van Amstel, D. E. Fransen van de Putte, Roger E. G. Schutgens, M. Spoor, Evelien P. Mauser-Bunschoten
Publikováno v:
Journal of Thrombosis and Haemostasis. 11:2179-2181
Autor:
L J, Spaapen, J A, Bakker, C, Velter, W, Loots, M E, Rubio-Gozalbo, P P, Forget, L, Dorland, T J, De Koning, B T, Poll-The, H K, Ploos van Amstel, J, Bekhof, N, Blau, M, Duran, M E, Rubio-Gonzalbo
Publikováno v:
Journal of inherited metabolic disease, 24(3), 352-358. Springer Netherlands
Journal of Inherited Metabolic Disease, 24(3), 352-358. Wiley
Journal of Inherited Metabolic Disease, 24(3), 352-358. Wiley
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gonzalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M.Departm
Autor:
Frank J.M. Broekmans, Y. T. van der Schouw, Marlies Voorhuis, Bart C.J.M. Fauser, H. K. Ploos van Amstel, N. C. Onland-Moret
Publikováno v:
Human reproduction (Oxford, England). 28(2)
study question: Is there an association between the number of CGG repeats in the FMR1 gene in the normal and intermediate range and age at natural menopause? summary answer: The number of CGG repeats in the normal and intermediate range in the FMR1 g
Autor:
Joost F. Swart, P van Zon, H-K Ploos van Amstel, M. E. van Gijn, Joost Frenkel, A van Royen-Kerkhof, W Harts, Martin G Elferink, Anna Simon
Publikováno v:
Pediatric Rheumatology Online Journal
Hereditary autoinflammatory diseases (AID) are characterized by recurrent bouts of systemic inflammation caused by dysregulation of the innate immunity system. The genotype-phenotype correlation can be highly variable which makes a genetic diagnosis
Autor:
J F, Roijers, M J, de Wit, R B, van der Luijt, H K, Ploos van Amstel, J W, Höppener, C J, Lips
Publikováno v:
European journal of clinical investigation. 30(6)
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal, dominantly inherited cancer syndrome, with tumours in various endocrine glands. In 1997 the responsible tumour suppressor gene was identified. MEN1 gene germ-line mutations are detected in
Publikováno v:
Journal of neurology. 244(9)
Publikováno v:
Prenatal diagnosis. 17(10)
Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a heal